Canonical Allele Identifier: CA10621745

Gene: FRAS1

Linked Data

• ClinVar Variation Id: 349804
• ClinVar RCV Id: RCV000297127 ; RCV003766018
• dbSNP Id: rs886059641
• gnomAD v4: 4-78521643-C-A
• MyVariant Identifiers: chr4:g.79442797C>A (hg19) ; chr4:g.78521643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78521643C>A , CM000666.2:g.78521643C>A	GRCh38
NC_000004.11:g.79442797C>A , CM000666.1:g.79442797C>A	GRCh37
NC_000004.10:g.79661821C>A	NCBI36
NG_015812.1:g.469074C>A
NG_015812.2:g.469074C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512123.4:c.10648+13C>A MANE Select	ENSP00000422834.2:n.10648+13C>A
ENST00000512123.3:c.10648+13C>A	ENSP00000422834.2:n.10648+13C>A
NM_025074.6:c.10648+13C>A	NP_079350.5:n.10648+13C>A
XM_006714314.1:c.10642+13C>A	XP_006714377.1:n.10642+13C>A
XM_006714316.1:c.10420+13C>A	XP_006714379.1:n.10420+13C>A
XM_011532270.1:c.8347+13C>A	XP_011530572.1:n.8347+13C>A
XM_011532271.1:c.5536+13C>A	XP_011530573.1:n.5536+13C>A
XM_006714316.3:c.10420+13C>A	XP_006714379.1:n.10420+13C>A
NM_025074.7:c.10648+13C>A MANE Select	NP_079350.5:n.10648+13C>A